Brain organoids are powerful tools to decipher the cellular mechanisms involved during human brain development. Guguin et al. generated human cortical organoids to model the impact of a specific variant of the centrosomal RTTN gene to pinpoint cellular alterations leading to microcephaly in patients. This image shows a section of a cortical organoid, harvested at 46 days in vitro, that exhibits neuronal progenitors (magenta) organised into neural rosettes. Each rosette mimics a neural tube with highly proliferative neural progenitors lining the surface of the rosette lumen (delineated in yellow) that then differentiate radially into neurons (green). See Guguin et al. Download December’s cover page.
Image Credit: Justine Guguin
Review
Cell-free placental DNA: What do we really know?
PLOS Genetics: published December 9, 2024 | https://doi.org/10.1371/journal.pgen.1011484
Research Articles
Different germline variants in the XPA gene are associated with severe, intermediate, or mild neurodegeneration in xeroderma pigmentosum patients
PLOS Genetics: published December 2, 2024 | https://doi.org/10.1371/journal.pgen.1011265
The RNA-dependent association of phosphatidylinositol 4,5-bisphosphate with intrinsically disordered proteins contribute to nuclear compartmentalization
PLOS Genetics: published December 2, 2024 | https://doi.org/10.1371/journal.pgen.1011462
FST and genetic diversity in an island model with background selection
PLOS Genetics: published December 2, 2024 | https://doi.org/10.1371/journal.pgen.1011225
FABIO: TWAS fine-mapping to prioritize causal genes for binary traits
PLOS Genetics: published December 2, 2024 | https://doi.org/10.1371/journal.pgen.1011503
Disentangling the consequences of type 2 diabetes on targeted metabolite profiles using causal inference and interaction QTL analyses
PLOS Genetics: published December 3, 2024 | https://doi.org/10.1371/journal.pgen.1011346
Functional investigation suggests CNTNAP5 involvement in glaucomatous neurodegeneration obtained from a GWAS in primary angle closure glaucoma
PLOS Genetics: published December 5, 2024 | https://doi.org/10.1371/journal.pgen.1011502
Cysteine Rich Intestinal Protein 2 is a copper-responsive regulator of skeletal muscle differentiation and metal homeostasis
PLOS Genetics: published December 5, 2024 | https://doi.org/10.1371/journal.pgen.1011495
Separable roles of the DNA damage response kinase Mec1ATR and its activator Rad24RAD17 during meiotic recombination
PLOS Genetics: published December 9, 2024 | https://doi.org/10.1371/journal.pgen.1011485
Hsp90 and cochaperones have two genetically distinct roles in regulating eEF2 function
PLOS Genetics: published December 9, 2024 | https://doi.org/10.1371/journal.pgen.1011508
Ustilago maydis Trf2 ensures genome stability by antagonizing Blm-mediated telomere recombination: Fine-tuning DNA repair factor activity at telomeres through opposing regulations
PLOS Genetics: published December 9, 2024 | https://doi.org/10.1371/journal.pgen.1011515
Transcription termination and antitermination are critical for the fitness and function of the integrative and conjugative element Tn916
PLOS Genetics: published December 9, 2024 | https://doi.org/10.1371/journal.pgen.1011417
Cbf11 and Mga2 function together to activate transcription of lipid metabolism genes and promote mitotic fidelity in fission yeast
PLOS Genetics: published December 9, 2024 | https://doi.org/10.1371/journal.pgen.1011509
Acetylation of the yeast Hsp40 chaperone protein Ydj1 fine-tunes proteostasis and translational fidelity
PLOS Genetics: published December 9, 2024 | https://doi.org/10.1371/journal.pgen.1011338
Loss of Notch dimerization perturbs intestinal homeostasis by a mechanism involving HDAC activity
PLOS Genetics: published December 12, 2024 | https://doi.org/10.1371/journal.pgen.1011486
The Tumor-Associated Calcium Signal Transducer 2 (TACSTD2) oncogene is upregulated in cystic epithelial cells revealing a potential new target for polycystic kidney disease
PLOS Genetics: published December 12, 2024 | https://doi.org/10.1371/journal.pgen.1011510
The cells are all-right: Regulation of the Lefty genes by separate enhancers in mouse embryonic stem cells
PLOS Genetics: published December 13, 2024 | https://doi.org/10.1371/journal.pgen.1011513
Integrin adhesome axis inhibits the RPM-1 ubiquitin ligase signaling hub to regulate growth cone and axon development
PLOS Genetics: published December 13, 2024 | https://doi.org/10.1371/journal.pgen.1011496
Adjusting for principal components can induce collider bias in genome-wide association studies
PLOS Genetics: published December 16, 2024 | https://doi.org/10.1371/journal.pgen.1011242
A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids
PLOS Genetics: published December 16, 2024 | https://doi.org/10.1371/journal.pgen.1011517
Spop deficiency impairs adipogenesis and promotes thermogenic capacity in mice
PLOS Genetics: published December 16, 2024 | https://doi.org/10.1371/journal.pgen.1011514
Multiple independent genetic code reassignments of the UAG stop codon in phyllopharyngean ciliates
PLOS Genetics: published December 17, 2024 | https://doi.org/10.1371/journal.pgen.1011512
Non-autonomous insulin signaling delays mitotic progression in C. elegans germline stem and progenitor cells
PLOS Genetics: published December 23, 2024 | https://doi.org/10.1371/journal.pgen.1011351
Runx3, Brn3a and Isl1 interplay orchestrates the transcriptional program in the early stages of proprioceptive neuron development
PLOS Genetics: published December 23, 2024 | https://doi.org/10.1371/journal.pgen.1011401
Polyploids broadly generate novel haplotypes from trans-specific variation in Arabidopsis arenosa and Arabidopsis lyrata
PLOS Genetics: published December 23, 2024 | https://doi.org/10.1371/journal.pgen.1011521
Decreased Hsp90 activity protects against TDP-43 neurotoxicity in a C. elegans model of amyotrophic lateral sclerosis
PLOS Genetics: published December 26, 2024 | https://doi.org/10.1371/journal.pgen.1011518
Estimating the proportion of beneficial mutations that are not adaptive in mammals
PLOS Genetics: published December 26, 2024 | https://doi.org/10.1371/journal.pgen.1011536
Inhibitory KIRs decrease HLA class II-mediated protection in Type 1 Diabetes
PLOS Genetics: published December 26, 2024 | https://doi.org/10.1371/journal.pgen.1011456
RcsF-independent mechanisms of signaling within the Rcs phosphorelay
PLOS Genetics: published December 26, 2024 | https://doi.org/10.1371/journal.pgen.1011408
Fitness landscapes of human microsatellites
PLOS Genetics: published December 30, 2024 | https://doi.org/10.1371/journal.pgen.1011524
Methods
TransferGWAS of T1-weighted brain MRI data from UK Biobank
PLOS Genetics: published December 13, 2024 | https://doi.org/10.1371/journal.pgen.1011332
Estimating and visualising multivariable Mendelian randomization analyses within a radial framework
PLOS Genetics: published December 16, 2024 | https://doi.org/10.1371/journal.pgen.1011506